ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) (rs61752103)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666018 SCV000790249 pathogenic Infantile Refsum's disease; Peroxisome biogenesis disorder 3A 2017-03-08 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000666018 SCV000894112 pathogenic Infantile Refsum's disease; Peroxisome biogenesis disorder 3A 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000008216 SCV000028423 pathogenic Peroxisome biogenesis disorder 3A 2004-06-08 no assertion criteria provided literature only
OMIM RCV000032926 SCV000056698 pathogenic Peroxisomal biogenesis disorder 3b 2004-06-08 no assertion criteria provided literature only

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